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Review
. 2024 Oct 13;25(20):11009.
doi: 10.3390/ijms252011009.

Reporter Alleles in hiPSCs: Visual Cues on Development and Disease

Gustavo Caldeira Cotta  1 , Rachel Castro Teixeira Dos Santos  1 , Guilherme Mattos Jardim Costa  1 , Samyra Maria Dos Santos Nassif Lacerda  1
Affiliations
Review

Reporter Alleles in hiPSCs: Visual Cues on Development and Disease

Gustavo Caldeira Cotta et al. Int J Mol Sci. .

Abstract

Reporter alleles are essential for advancing research with human induced pluripotent stem cells (hiPSCs), notably in developmental biology and disease modeling. This study investigates the state-of-the-art gene-editing techniques tailored for generating reporter alleles in hiPSCs, emphasizing their effectiveness in investigating cellular dynamics and disease mechanisms. Various methodologies, including the application of CRISPR/Cas9 technology, are discussed for accurately integrating reporter genes into the specific genomic loci. The synthesis of findings from the studies utilizing these reporter alleles reveals insights into developmental processes, genetic disorder modeling, and therapeutic screening, consolidating the existing knowledge. These hiPSC-derived models demonstrate remarkable versatility in replicating human diseases and evaluating drug efficacy, thereby accelerating translational research. Furthermore, this review addresses challenges and future directions in refining the reporter allele design and application to bolster their reliability and relevance in biomedical research. Overall, this investigation offers a comprehensive perspective on the methodologies, applications, and implications of reporter alleles in hiPSC-based studies, underscoring their essential role in advancing both fundamental scientific understanding and clinical practice.

Keywords: developmental biology; disease modeling; human iPSCs; reporter alleles.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Acquisition and applications of pluripotent stem cells (PSCs). Pluripotent stem cells can be acquired through somatic reprogramming of animal or human cells, such as fibroblasts, or by collecting cells from the inner cell mass of blastocysts. Under very specific culture conditions, their pluripotent potential is maintained, enabling their use in differentiating into lineages of the three germ layers in vitro. Human PSC-derived cells have various applications, including developmental biology studies, disease modeling, organoid development, and cell therapies.
Figure 2
Figure 2
Summary of the application of fluorescent reporter alleles for the detection of specific genes (markers) using cellular imaging techniques.
Figure 3
Figure 3
Overview of the three major gene-editing platforms. ZFNs, TALENs, and CRISPR/Cas9 rely on the HDR pathway.
Figure 4
Figure 4
Experimental workflow required for the generation of iPSCs harboring reporter alleles.
See this image and copyright information in PMC

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